Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000006.12:g.79916658_79916659delinsCA , CM000668.2:g.79916658_79916659delinsCA | GRCh38 |
| NC_000006.11:g.80626375_80626376delinsCA , CM000668.1:g.80626375_80626376delinsCA | GRCh37 |
| NC_000006.10:g.80683094_80683095delinsCA | NCBI36 |
| NG_009108.1:g.35940_35941delinsTG | |
| NG_009108.2:g.35940_35941delinsTG |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000369816.5:c.894_895delinsTG MANE Select | ENSP00000358831.4:p.Met299Val | |
| ENST00000369816.4:c.894_895delinsTG | ENSP00000358831.4:p.Met299Val | |
| NM_022726.3:c.894_895delinsTG | NP_073563.1:p.Met299Val | |
| NM_022726.4:c.894_895delinsTG MANE Select | NP_073563.1:p.Met299Val |